Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Wu, Chi-Hong; Fallini, Claudia; Ticozzi, Nicola; Keagle, Pamela J.; Sapp, Peter C.; Piotrowska, Katarzyna; Lowe, Patrick; Koppers, Max; McKenna-Yasek, Diane; Baron, Desiree M.; Kost, Jason E.; Gonzalez-Perez, Paloma; Fox, Andrew D.; Adams, Jenni; Taroni, Franco; Tiloca, Cinzia; Leclerc, Ashley Lyn; Chafe, Shawn C.; Mangroo, Dev; Moore, Melissa J.; Zitzewitz, Jill A.; Xu, Zuo-Shang; van den Berg, Leonard H.; Glass, Jonathan D.; Siciliano, Gabriele; Cirulli, Elizabeth T.; Goldstein, David B.; Salachas, Francois; Meininger, Vincent; Rossoll, Wilfried; Ratti, Antonia; Gellera, Cinzia; Bosco, Daryl A.; Bassell, Gary J.; Silani, Vincenzo; Drory, Vivian E.; Brown, Robert H.; Landers, John E.

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Chi-Hong Wu, Claudia Fallini, Nicola Ticozzi, Pamela J. Keagle, Peter C. Sapp, Katarzyna Piotrowska, Patrick Lowe, Max Koppers, Diane McKenna-Yasek, Desiree M. Baron, Jason E. Kost, Paloma Gonzalez-Perez, Andrew D. Fox, Jenni Adams, Franco Taroni, Cinzia Tiloca, Ashley Lyn Leclerc, Shawn C. Chafe, Dev Mangroo, Melissa J. Moore, Jill A. Zitzewitz, Zuo-Shang Xu, Leonard H. van den Berg, Jonathan D. Glass, Gabriele Siciliano, Elizabeth T. Cirulli, David B. Goldstein, Francois Salachas, Vincent Meininger, Wilfried Rossoll, Antonia Ratti, Cinzia Gellera, Daryl A. Bosco, Gary J. Bassell, Vincenzo Silani, Vivian E. Drory, Robert H. Brown and John E. Landers ()
Additional contact information
Chi-Hong Wu: University of Massachusetts Medical School
Claudia Fallini: Emory University School of Medicine
Nicola Ticozzi: IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
Pamela J. Keagle: University of Massachusetts Medical School
Peter C. Sapp: University of Massachusetts Medical School
Katarzyna Piotrowska: University of Massachusetts Medical School
Patrick Lowe: University of Massachusetts Medical School
Max Koppers: Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands
Diane McKenna-Yasek: University of Massachusetts Medical School
Desiree M. Baron: University of Massachusetts Medical School
Jason E. Kost: University of Massachusetts Medical School
Paloma Gonzalez-Perez: University of Massachusetts Medical School
Andrew D. Fox: University of Massachusetts Medical School
Jenni Adams: University of Massachusetts Medical School
Franco Taroni: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan 20133, Italy
Cinzia Tiloca: IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
Ashley Lyn Leclerc: University of Massachusetts Medical School
Shawn C. Chafe: University of Guelph, Guelph, Ontario N1G2W1, Canada
Dev Mangroo: University of Guelph, Guelph, Ontario N1G2W1, Canada
Melissa J. Moore: Howard Hughes Medical Institute, University of Massachusetts Medical School
Jill A. Zitzewitz: University of Massachusetts Medical School
Zuo-Shang Xu: University of Massachusetts Medical School
Leonard H. van den Berg: Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands
Jonathan D. Glass: Center for Neurodegenerative Disease, Emory University School of Medicine
Gabriele Siciliano: University of Pisa, 56126 Pisa, Italy
Elizabeth T. Cirulli: Center for Human Genome Variation, Duke University School of Medicine
David B. Goldstein: Center for Human Genome Variation, Duke University School of Medicine
Francois Salachas: Centre Référent Maladies Rares, APHP, UPMC, Hôpital de la Salpêtrière, Paris 75013, France
Vincent Meininger: Centre Référent Maladies Rares, APHP, UPMC, Hôpital de la Salpêtrière, Paris 75013, France
Wilfried Rossoll: Emory University School of Medicine
Antonia Ratti: IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
Cinzia Gellera: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan 20133, Italy
Daryl A. Bosco: University of Massachusetts Medical School
Gary J. Bassell: Emory University School of Medicine
Vincenzo Silani: IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
Vivian E. Drory: Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, 64239 Tel-Aviv, Israel
Robert H. Brown: University of Massachusetts Medical School
John E. Landers: University of Massachusetts Medical School

Nature, 2012, vol. 488, issue 7412, 499-503

Abstract: Mutations in the profilin 1 (PFN1) gene, which is crucial for the conversion of monomeric to filamentous actin, can cause familial amyotrophic lateral sclerosis, suggesting that alterations in cytoskeletal pathways contribute to disease pathogenesis.

Date: 2012
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DOI: 10.1038/nature11280

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